ChimPipe: accurate detection of fusion genes and transcription-induced chimeras from RNA-seq data
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- 作者：Bernardo Rodríguez-Martín ; Emilio Palumbo ; Santiago Marco-Sola…
- 关键词：Chimera ; Transcript ; Fusion gene ; RNA ; seq ; Benchmark ; Cancer ; Simulation ; Isoform ; Splice junction
- 刊名：BMC Genomics
- 出版年：2017
- 出版时间：December 2017
- 年：2017
- 卷：18
- 期：1
- 全文大小：1656KB
- 刊物主题：Life Sciences, general; Microarrays; Proteomics; Animal Genetics and Genomics; Microbial Genetics and Genomics; Plant Genetics & Genomics;
- 出版者：BioMed Central
- ISSN：1471-2164
- 卷排序：18
文摘
BackgroundChimeric transcripts are commonly defined as transcripts linking two or more different genes in the genome, and can be explained by various biological mechanisms such as genomic rearrangement, read-through or trans-splicing, but also by technical or biological artefacts. Several studies have shown their importance in cancer, cell pluripotency and motility. Many programs have recently been developed to identify chimeras from Illumina RNA-seq data (mostly fusion genes in cancer). However outputs of different programs on the same dataset can be widely inconsistent, and tend to include many false positives. Other issues relate to simulated datasets restricted to fusion genes, real datasets with limited numbers of validated cases, result inconsistencies between simulated and real datasets, and gene rather than junction level assessment.